Canonical Allele Identifier: CA391334869

Gene: CYFIP1

Linked Data

• MyVariant Identifiers: chr15:g.22969175C>A (hg19) ; chr15:g.22903893G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22903893G>T , CM000677.2:g.22903893G>T	GRCh38
NC_000015.9:g.22969175C>A , CM000677.1:g.22969175C>A	GRCh37
NC_000015.8:g.20520616C>A	NCBI36
NG_054889.1:g.82014C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612288.2:c.2395C>A	ENSP00000479802.2:p.Leu799Met
ENST00000617928.5:c.2401C>A MANE Select	ENSP00000481038.1:p.Leu801Met
ENST00000610365.4:c.2401C>A	ENSP00000478779.1:p.Leu801Met
ENST00000617556.4:c.1108C>A	ENSP00000480525.1:p.Leu370Met
ENST00000617928.4:c.2401C>A	ENSP00000481038.1:p.Leu801Met
ENST00000619290.4:n.794C>A
ENST00000619348.4:n.1548C>A
NM_001033028.1:c.1108C>A	NP_001028200.1:p.Leu370Met
NM_001287810.1:c.2401C>A	NP_001274739.1:p.Leu801Met
NM_014608.3:c.2401C>A	NP_055423.1:p.Leu801Met
XM_011543873.1:c.2800C>A	XP_011542175.1:p.Leu934Met
XM_011543874.1:c.2800C>A	XP_011542176.1:p.Leu934Met
XM_011543875.1:c.2800C>A	XP_011542177.1:p.Leu934Met
XM_011543876.1:c.2395C>A	XP_011542178.1:p.Leu799Met
NM_001033028.2:c.1108C>A	NP_001028200.1:p.Leu370Met
NM_001287810.3:c.2401C>A	NP_001274739.1:p.Leu801Met
NM_001324119.2:c.2503C>A	NP_001311048.1:p.Leu835Met
NM_001324120.2:c.2401C>A	NP_001311049.1:p.Leu801Met
NM_001324122.2:c.721C>A	NP_001311051.1:p.Leu241Met
NM_001324123.2:c.2401C>A	NP_001311052.1:p.Leu801Met
NM_001324124.2:c.2311C>A	NP_001311053.1:p.Leu771Met
NM_001324125.2:c.2035C>A	NP_001311054.1:p.Leu679Met
NM_001324126.2:c.2299C>A	NP_001311055.1:p.Leu767Met
NM_014608.5:c.2401C>A	NP_055423.1:p.Leu801Met
XM_011543873.3:c.2800C>A	XP_011542175.1:p.Leu934Met
XM_011543874.2:c.2800C>A	XP_011542176.1:p.Leu934Met
XM_011543876.3:c.2497C>A	XP_011542178.2:p.Leu833Met
XM_017022023.2:c.2902C>A	XP_016877512.1:p.Leu968Met
XM_017022024.2:c.2800C>A	XP_016877513.1:p.Leu934Met
XM_024449876.1:c.2800C>A	XP_024305644.1:p.Leu934Met
XM_024449877.1:c.2401C>A	XP_024305645.1:p.Leu801Met
NM_014608.6:c.2401C>A MANE Select	NP_055423.1:p.Leu801Met
NM_001287810.4:c.2401C>A	NP_001274739.1:p.Leu801Met
NM_001324122.3:c.721C>A	NP_001311051.1:p.Leu241Met
NM_001324123.3:c.2401C>A	NP_001311052.1:p.Leu801Met
NM_001324124.3:c.2311C>A	NP_001311053.1:p.Leu771Met
NM_001324125.3:c.2035C>A	NP_001311054.1:p.Leu679Met
NM_001324126.3:c.2299C>A	NP_001311055.1:p.Leu767Met
NM_001033028.3:c.1108C>A	NP_001028200.1:p.Leu370Met